Genetic mapping of a major susceptibility locus for juvenile myoclonic epilepsy on chromosome 15q. - Wikidata - awgldk - TriplyDB

Genetic mapping of a major susceptibility locus for juvenile myoclonic epilepsy on chromosome 15q.

Genetic mapping of a major susceptibility locus for juvenile myoclonic epilepsy on chromosome 15q.

http://www.wikidata.org/entity/Q48650497

about

Cloning, characterization, and chromosomal location of a novel human K+-Cl- cotransporter Cloning and characterization of KCC3 and KCC4, new members of the cation-chloride cotransporter gene family Identification of a new locus for generalized epilepsy with febrile seizures plus (GEFS+) on chromosome 2q24-q33.Autosomal dominant nocturnal frontal-lobe epilepsy: genetic heterogeneity and evidence for a second locus at 15q24 CNV and nervous system diseases--what's new?Advances in genetics of juvenile myoclonic epilepsies A locus for febrile seizures (FEB3) maps to chromosome 2q23-24 Ion channels and epilepsy Mapping of a locus for a familial autosomal recessive idiopathic myoclonic epilepsy of infancy to chromosome 16p13.Adolescent seizures and epilepsy syndromes.Detailed analysis of 15q11-q14 sequence corrects errors and gaps in the public access sequence to fully reveal large segmental duplications at breakpoints for Prader-Willi, Angelman, and inv dup(15) syndromes.Idiopathic epilepsies with a complex mode of inheritance.Recent advances in the genetics of epilepsy: insights from human and animal studies.Genetics of childhood epilepsy Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders.Reproducibility and complications in gene searches: linkage on chromosome 6, heterogeneity, association, and maternal inheritance in juvenile myoclonic epilepsy Genetically complex epilepsies, copy number variants and syndrome constellations.Evidence for linkage of adolescent-onset idiopathic generalized epilepsies to chromosome 8-and genetic heterogeneity Localization of a gene for benign adult familial myoclonic epilepsy to chromosome 8q23.3-q24.1.15q13.3 microdeletions increase risk of idiopathic generalized epilepsy.Mutational analysis of EFHC1 gene in Italian families with juvenile myoclonic epilepsy.Genetic identifiers of epilepsy.Candidate genes for idiopathic epilepsy in four dog breeds.Complex inheritance and parent-of-origin effect in juvenile myoclonic epilepsy Genetics of inherited human epilepsies Functional Impact of 14 Single Nucleotide Polymorphisms Causing Missense Mutations of Human α7 Nicotinic Receptor.Long-lasting changes in neural networks to compensate for altered nicotinic input.Nicotine recruits glutamate receptors to postsynaptic sites.Effects of Zn2+ on wild and mutant neuronal alpha7 nicotinic receptors.Susceptibility genes for complex epilepsy.Genetics of idiopathic generalized epilepsies.Seizures of idiopathic generalized epilepsies.Association between the 2-bp deletion polymorphism in the duplicated version of the alpha7 nicotinic receptor gene and P50 sensory gating A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures.Chipping away at the common epilepsies with complex genetics: the 15q13.3 microdeletion shows the way.Structural brain abnormalities in juvenile myoclonic epilepsy patients: volumetry and voxel-based morphometry.Genome-wide gene expression in a patient with 15q13.3 homozygous microdeletion syndrome.Association study of the 2-bp deletion polymorphism in exon 6 of the CHRFAM7A gene with idiopathic generalized epilepsy.α7-Containing nicotinic acetylcholine receptors on interneurons of the basolateral amygdala and their role in the regulation of the network excitability Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders.

P2860

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P2860

Genetic mapping of a major susceptibility locus for juvenile myoclonic epilepsy on chromosome 15q.

http://www.wikidata.org/entity/Q48650497

description

1997 nî lūn-bûn

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1997年の論文

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1997年学术文章

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1997年学术文章

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1997年学术文章

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1997年学术文章

@zh-hans

1997年学术文章

@zh-my

1997年学术文章

@zh-sg

1997年學術文章

@yue

1997年學術文章

@zh-hant

name

Genetic mapping of a major sus ...... ic epilepsy on chromosome 15q.

@en

Genetic mapping of a major sus ...... ic epilepsy on chromosome 15q.

@nl

type

label

Genetic mapping of a major sus ...... ic epilepsy on chromosome 15q.

@en

Genetic mapping of a major sus ...... ic epilepsy on chromosome 15q.

@nl

prefLabel

Genetic mapping of a major sus ...... ic epilepsy on chromosome 15q.

@en

Genetic mapping of a major sus ...... ic epilepsy on chromosome 15q.

@nl

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Human Molecular Genetics

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Genetic mapping of a major sus ...... ic epilepsy on chromosome 15q.

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P2093

Arzimanoglou A

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Chadwick D

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Covanis A

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Curtis D

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Elmslie FV

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Friis ML

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Gardiner RM

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Kerr M

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Kjeldsen MJ

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Panayiotopoulos CP

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1329-1334

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scholarly article

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10.1093/HMG/6.8.1329

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8

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6

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William P Whitehouse

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1997-08-01T00:00:00Z

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13961504

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9259280

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susceptibility locus